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线粒体脑病是一组由各种原因引起的以线粒体氧化磷酸化功能受损为特征的遗传代谢性疾病。根据突变基因的来源不同,其遗传方式可分为母系遗传、常染色体或性染色体遗传。近年来,随着技术的发展以及对这些疾病的生化和分子基础知识认识的提高,神经学专家和医生对这些遗传病的早期诊断水平有了显著的提高。然而,由于对疾病基因层面认识的不足,大部分患者的致病基因仍无法明确,这为线粒体脑病的治疗带来了巨大的挑战。现以Alpers病、SNE病、Menke病、LHON病和MELAS病为例阐述线粒体脑病的最新研究进展。
Mitochondrial encephalopathy is a group of inherited metabolic diseases characterized by impaired mitochondrial oxidative phosphorylation caused by a variety of causes. According to the different sources of mutated genes, their genetic patterns can be divided into maternally inherited, autosomal or sex chromosome inheritance. In recent years, neurotechnologists and doctors have remarkably increased the level of early diagnosis of these genetic diseases as technology advances and their understanding of the biochemical and molecular basic knowledge of these diseases has increased. However, due to lack of understanding of the disease gene level, most of the patients are still not clear pathogenic genes, which for the treatment of mitochondrial encephalopathy presents a huge challenge. Now Alpers disease, SNE disease, Menke disease, LHON disease and MELAS disease as an example to explain the latest research progress of mitochondrial encephalopathy.